Angli Xue

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

The paper introduces CASTIE, a method for context-dependent eQTL mapping in single-cell data, identifying regulatory variants missed by static models and linking them to disease traits.

The paper uses single-cell eQTL data to identify cell-type-specific effector genes associated with 69 diseases and 31 biomarker traits, revealing distinct immune cell contributions to disease.

The paper maps chromatin accessibility and genetic variation in immune cells, showing how integrating cell-type-specific data improves disease risk understanding.

MiniMarS identifies the minimal number of protein markers for cell type annotation across multiple datasets and improves rare population identification.

SAIGE-QTL is a tool for single-cell eQTL analysis that directly maps eQTLs without pseudobulk aggregation and improves power for detecting rare variants.

The paper introduces MEOTIVE, a statistical framework to identify genetic effects on gene expression variability, revealing new mechanisms of genome regulation and associations with autoimmune disease risk.

This paper evaluates the use of PEER factors in single-cell eQTL analysis, showing that proper QC and transformation are needed to avoid spurious correlations and improve eQTL detection.

This study uses Mendelian randomization to show a causal link between type 2 diabetes and cataract risk in East Asians, identifying two candidate genes involved in this relationship.

The paper corrects biases in self-reported behavioural traits in UK Biobank data by addressing misreports and longitudinal changes, revealing previously hidden genetic associations.

This study identifies 143 genetic loci associated with 25 hydroxyvitamin D concentration in Europeans, revealing biological pathways and causal relationships with health outcomes.

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

This paper applies Mendelian randomization to identify causal factors for Parkinson's disease using 5,839 exposures and reports twelve causal associations, including adiposity.

The paper identifies potential causal genes for AMD by integrating GWAS and eQTL data and validating them in zebrafish models.

The paper identifies genetic variants associated with phenotypic variability and shows they exhibit genotype-by-environment interactions for obesity-related traits using UK Biobank data.

This study identifies 139 common and 4 rare genetic variants associated with type 2 diabetes through GWAS and integrates gene expression and epigenomic data to highlight potential functional genes and regulatory mechanisms.

The paper identifies gene targets for brain-related traits using transcriptomic and methylomic data from blood, finding strong correlations between genetic effects in brain and blood tissues.

The paper estimates the joint distribution of effect size and MAF for genetic variants in 28 complex traits and detects widespread negative selection signatures.